Abstract [en]

The extraocular muscles (EOMs) have unique functional and structural properties that truly set them apart from the other skeletal muscles in the body. Their most outstanding feature is a distinct behavior in disease. The EOMs remain unaffected in Duchenne muscular dystrophy and merosin-deficient congenital muscle dystrophy, two devastating muscle diseases causing severe handicap and precocious death. The EOMs are remarkably spared in motor neuron diseases such as amyotrophic lateral sclerosis, also a lethal neuromuscular disease. In contrast, these muscles are selectively affected in the Miller Fisher syndrome, and they are often the primary target in myasthenia gravis – two diseases affecting the neuromuscular junction.